Canonical Allele Identifier: CA2064766943
Gene: TBX3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114674794_114674800delinsTCTCGGC , CM000674.2:g.114674794_114674800delinsTCTCGGC GRCh38
NC_000012.11:g.115112599_115112605delinsTCTCGGC , CM000674.1:g.115112599_115112605delinsTCTCGGC GRCh37
NC_000012.10:g.113596982_113596988delinsTCTCGGC NCBI36
NG_008315.1:g.14365_14371delinsGCCGAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.1075_1081delinsGCCGAGA MANE Select ENSP00000257567.2:p.Ala359=
ENST00000257566.7:c.1135_1141delinsGCCGAGA ENSP00000257566.3:p.Ala379=
ENST00000349155.6:c.1075_1081delinsGCCGAGA ENSP00000257567.2:p.Ala359=
ENST00000613550.1:c.1075_1081delinsGCCGAGA ENSP00000480048.1:p.Ala359=
NM_005996.3:c.1075_1081delinsGCCGAGA NP_005987.3:p.Ala359=
NM_016569.3:c.1135_1141delinsGCCGAGA NP_057653.3:p.Ala379=
NM_005996.4:c.1075_1081delinsGCCGAGA MANE Select NP_005987.3:p.Ala359=
NM_016569.4:c.1135_1141delinsGCCGAGA NP_057653.3:p.Ala379=